NM_001009944.3(PKD1):c.12165del (p.Trp4056fs) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 30, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001009082.2
Allele description [Variation Report for NM_001009944.3(PKD1):c.12165del (p.Trp4056fs)]
NM_001009944.3(PKD1):c.12165del (p.Trp4056fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
Assertion and evidence details
Last Updated: Apr 23, 2022